The mTOR pathway is fundamental to nearly every cell in the body. It drives processes related to cell growth, protein production and metabolism, influencing everything from neurocognition to tumor growth. Because of this broad role, indications for drugs targeting the mTOR pathway are also remarkably broad.
Alexander Malloy, 14, is one of the first patients to benefit from a new use: curbing rapid bone loss in patients with a rare “vanishing bone disease,” or Gorham-Stout syndrome. It was discovered when Alex, who had mild scoliosis, started getting worse. To his parents’ shock, an MRI scan showed he was missing bones in his spine.
Gorham-Stout is actually the result of a rare vascular anomaly. …
Our genes can mutate at any point in our lives. In rare cases, a mutation randomly occurs in a single cell of an embryo and gets carried forward only in the descendants of that particular cell, leaving its mark in some tissues, but not in others. This pattern of mutation, called somatic mosaicsm, can have complicated consequences down the road.
Research on rare disorders, or in new fields, often follows a particular trajectory. It tends to start out fragmented, carried out by one or two isolated researchers at a few institutions.
But as researchers find each other, identify more patients and start to collaborate systematically, patterns of disease biology emerge, researchers start speaking the same language and new treatments materialize.
The field of complex vascular anomalies—a set of conditions characterized by blood vessels that have not developed normally—is in this kind of early days. In large part this is because they are relatively rare. In addition, few centers worldwide have the multidisciplinary experience to provide comprehensive care to these rare patients.
But a new coalition forming around vascular anomaly research and care could help unravel the biology of vascular anomalies and fashion better treatments for these children by bringing to bear the resources and knowledge of specialists from across the continent. …
How do you find the genetic cause of a disease that doesn’t appear to be inherited, presents with a variety of symptoms—and has been diagnosed in just a few hundred people worldwide? Add to that the fact that the genetic defect occurs in only a portion of a patient’s cells, and a formidable challenge emerges.
It all started in 2006. That’s when, after poring over years’ worth of patient records and photos, Ahmad Alomari, MD, an interventional radiologist at Boston Children’s and co-director of its Vascular Anomalies Center, defined a condition he called CLOVES syndrome. CLOVES is complex and looks somewhat different in every patient, causing a combination of vascular, skin, spinal and bone or joint abnormalities. It’s a rare and progressive disease for which no known cure or “one-size-fits-all” treatment exists. …